epidermolysis bullosa lethalis

ep·i·der·mol·y·sis bul·lo·'sa le·tha·'lis

[MIM*226700] a form of epidermolysis bullosa characterized by persistent and nonhealing perioral and perinasal crusted lesions with bullae often present in the oral mucosa and trachea, but not on the palms and soles, complicated by dermal sepsis and serum protein and electrolyte loss leading to death; autosomal recessive inheritance, caused by mutation in any one of the three distinct polypeptides of laminin-5; alpha-3 (LAMA3) on chromosome 18q, beta-3 (LAMB3) and gamma-2 (LAMC2) on 1q or the gene encoding integrin, beta-4 (ITGB4) on 17q. Synonym(s): epidermolysis bullosa, junctional type, Herlitz syndrome

Herlitz,

Gillis, Swedish pediatrician, 1902–. Herlitz syndrome - epidermolysis bullosa in which the bullae are persistent, nonhealing, and often present in the oral mucosa and trachea. Synonym(s): epidermolysis bullosa lethalis

ep·i·der·mol·y·sis bul·lo·sa le·tha·lis

(epi-dĕr-moli-sis bu-lōsă lē-thālis) [MIM*226700] Form of epidermolysis bullosa characterized by persistent and nonhealing perioral and perinasal crusted lesions with bullae often present in the oral mucosa and trachea.

单词	epidermolysis bullosa lethalis
释义	epidermolysis bullosa lethalis ep·i·der·mol·y·sis bul·lo·'sa le·tha·'lis [MIM226700] a form of epidermolysis bullosa characterized by persistent and nonhealing perioral and perinasal crusted lesions with bullae often present in the oral mucosa and trachea, but not on the palms and soles, complicated by dermal sepsis and serum protein and electrolyte loss leading to death; autosomal recessive inheritance, caused by mutation in any one of the three distinct polypeptides of laminin-5; alpha-3 (LAMA3) on chromosome 18q, beta-3 (LAMB3) and gamma-2 (LAMC2) on 1q or the gene encoding integrin, beta-4 (ITGB4) on 17q. Synonym(s): epidermolysis bullosa, junctional type, Herlitz syndrome Herlitz, Gillis, Swedish pediatrician, 1902–. Herlitz syndrome* - epidermolysis bullosa in which the bullae are persistent, nonhealing, and often present in the oral mucosa and trachea. Synonym(s): epidermolysis bullosa lethalis ep·i·der·mol·y·sis bul·lo·sa le·tha·lis (epi-dĕr-moli-sis bu-lōsă lē-thālis) [MIM*226700] Form of epidermolysis bullosa characterized by persistent and nonhealing perioral and perinasal crusted lesions with bullae often present in the oral mucosa and trachea.
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